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The factor VR506Q mutation causing APC resistance is highly prevalent amongst unselected outpatients with clinically suspected deep venous thrombosis

Svensson, Peter LU ; Zöller, Bengt LU ; Mattiasson, Ingrid LU and Dahlbäck, Björn LU (1997) In Journal of Internal Medicine 241(5). p.379-385
Abstract

OBJECTIVE: Resistance to activated protein C (APC resistance), caused by a single point mutation in the factor V gene (FV:R506Q), is a major risk factor for venous thrombosis. As the significance of this mutation among unselected outpatients with deep-vein thrombosis (DVT) is not established, we have studied its prevalence among consecutive outpatients attending the emergency room due to a clinically suspected DVT.

DESIGN, SETTING AND SUBJECTS: The FV:R506Q mutation was determined in 223 consecutive Swedish outpatients with clinically suspected DVT, and in 288 healthy controls. Using phlebography, the patients were classified as DVT-positive or DVT-negative.

MAIN OUTCOME MEASURE: The prevalence of FV:R506Q... (More)

OBJECTIVE: Resistance to activated protein C (APC resistance), caused by a single point mutation in the factor V gene (FV:R506Q), is a major risk factor for venous thrombosis. As the significance of this mutation among unselected outpatients with deep-vein thrombosis (DVT) is not established, we have studied its prevalence among consecutive outpatients attending the emergency room due to a clinically suspected DVT.

DESIGN, SETTING AND SUBJECTS: The FV:R506Q mutation was determined in 223 consecutive Swedish outpatients with clinically suspected DVT, and in 288 healthy controls. Using phlebography, the patients were classified as DVT-positive or DVT-negative.

MAIN OUTCOME MEASURE: The prevalence of FV:R506Q mutation.

RESULTS: The prevalence of the FV:R506Q mutation was 28% (28/99) in the DVT-positive subgroup (relative risk: 3.1; 95% CI: 1.7-5.5), and 23% (28/124) in the DVT negative subgroup (relative risk: 2.0; 95% CI: 1.1-3.6), as compared to 11% (32/288) in the control group. In the DVT-positive subgroup, the FV:R506Q mutation was most common among younger patients with primary thrombosis (47%) and least common among older patients with secondary thrombosis (19%). The high prevalence of FV:R506Q mutation among DVT-negative patients was associated with a high frequency of previous venous thrombosis. Thus, 46% (13/28) of the DVT-negative FV:R506Q carriers had a history of thrombosis, compared with only 22% (21/96) of the DVT-negative patients lacking the mutation (P = 0.01).

CONCLUSION: To sum up, the FV:R506Q mutation is present in more than a quarter of Swedish DVT-positive outpatients with clinically suspected DVT, indicating that APC-resistance is a major thrombotic risk factor contributing to the high incidence of venous thrombosis in Sweden.

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keywords
Adult, Aged, Aged, 80 and over, Case-Control Studies, Factor V, Factor Va, Female, Heterozygote Detection, Humans, Male, Middle Aged, Outpatients, Phlebography, Point Mutation, Prevalence, Protein C, Thrombophlebitis, Journal Article, Research Support, Non-U.S. Gov't
in
Journal of Internal Medicine
volume
241
issue
5
pages
7 pages
publisher
Wiley-Blackwell Publishing Ltd
external identifiers
  • scopus:0030609926
ISSN
0954-6820
language
English
LU publication?
yes
id
5aa3924e-4490-499b-bb5a-0d1c905f4e0d
date added to LUP
2017-10-19 16:32:25
date last changed
2017-11-07 15:01:33
@article{5aa3924e-4490-499b-bb5a-0d1c905f4e0d,
  abstract     = {<p>OBJECTIVE: Resistance to activated protein C (APC resistance), caused by a single point mutation in the factor V gene (FV:R506Q), is a major risk factor for venous thrombosis. As the significance of this mutation among unselected outpatients with deep-vein thrombosis (DVT) is not established, we have studied its prevalence among consecutive outpatients attending the emergency room due to a clinically suspected DVT.</p><p>DESIGN, SETTING AND SUBJECTS: The FV:R506Q mutation was determined in 223 consecutive Swedish outpatients with clinically suspected DVT, and in 288 healthy controls. Using phlebography, the patients were classified as DVT-positive or DVT-negative.</p><p>MAIN OUTCOME MEASURE: The prevalence of FV:R506Q mutation.</p><p>RESULTS: The prevalence of the FV:R506Q mutation was 28% (28/99) in the DVT-positive subgroup (relative risk: 3.1; 95% CI: 1.7-5.5), and 23% (28/124) in the DVT negative subgroup (relative risk: 2.0; 95% CI: 1.1-3.6), as compared to 11% (32/288) in the control group. In the DVT-positive subgroup, the FV:R506Q mutation was most common among younger patients with primary thrombosis (47%) and least common among older patients with secondary thrombosis (19%). The high prevalence of FV:R506Q mutation among DVT-negative patients was associated with a high frequency of previous venous thrombosis. Thus, 46% (13/28) of the DVT-negative FV:R506Q carriers had a history of thrombosis, compared with only 22% (21/96) of the DVT-negative patients lacking the mutation (P = 0.01).</p><p>CONCLUSION: To sum up, the FV:R506Q mutation is present in more than a quarter of Swedish DVT-positive outpatients with clinically suspected DVT, indicating that APC-resistance is a major thrombotic risk factor contributing to the high incidence of venous thrombosis in Sweden.</p>},
  author       = {Svensson, Peter and Zöller, Bengt and Mattiasson, Ingrid and Dahlbäck, Björn},
  issn         = {0954-6820},
  keyword      = {Adult,Aged,Aged, 80 and over,Case-Control Studies,Factor V,Factor Va,Female,Heterozygote Detection,Humans,Male,Middle Aged,Outpatients,Phlebography,Point Mutation,Prevalence,Protein C,Thrombophlebitis,Journal Article,Research Support, Non-U.S. Gov't},
  language     = {eng},
  number       = {5},
  pages        = {379--385},
  publisher    = {Wiley-Blackwell Publishing Ltd},
  series       = {Journal of Internal Medicine},
  title        = {The factor VR506Q mutation causing APC resistance is highly prevalent amongst unselected outpatients with clinically suspected deep venous thrombosis},
  volume       = {241},
  year         = {1997},
}